Annals of Indian Academy of Neurology
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CASE REPORT
Year : 2016  |  Volume : 19  |  Issue : 3  |  Page : 395-398

Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature


1 Department of Pediatric Neurology, Rainbow Children's Hospital, Banjara Hills, Hyderabad, Telangana, India
2 Department of Pediatric Critical Care, Rainbow Children's Hospital, Banjara Hills, Hyderabad, Telangana, India

Correspondence Address:
Lokesh Lingappa
Consultant Child and Adolescent Neurologist, Rainbow Children's Hospital and Perinatal Hospital, Hyderabad - 500 034, Telangana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.168635

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Spinal muscular atrophy with respiratory distress syndrome (SMARD1) is a rare cause of early infantile respiratory failure and death. No cases have been currently described from India. Two low-birth-weight infants presented prior to 6 months of age with recurrent apnea and respiratory distress. Both required prolonged ventilation, and had distal arthrogryposis and diaphragmatic eventration. Nerve conduction study revealed motor sensory axonopathy. Genetic testing confirmed mutations in immunoglobulin mu binding protein (IGHMBP2). These two cases establish presence of SMARD1 in our population. Both infants died on discontinuation of ventilation. Antenatal diagnoses done in one pregnancy. Though rare, high index of suspicion is essential in view of poor outcome and aid antenatal counseling.


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